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Results 1 - 7 of 7 for Lethal skeletal dysplasia
  1. Thanatophoric dysplasia 
    Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features ...
    https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia - Genetics
  2. Platyspondylic dysplasia, Torrance type 
    ... type Platyspondylic dysplasia, type Torrance, COL2A1-related Platyspondylic lethal skeletal dysplasia, Torrance type PLSD-T Genetic Testing Registry: Platyspondylic ...
    https://medlineplus.gov/.../platyspondylic-dysplasia-torrance-type - Genetics
  3. Spondyloperipheral dysplasia 
    ... in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within ...
    https://medlineplus.gov/.../condition/spondyloperipheral-dysplasia - Genetics
  4. Achondrogenesis 
    ... Cohn DH, Kirchhausen T, Warman ML, Beier DR. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP- ...
    https://medlineplus.gov/genetics/condition/achondrogenesis - Genetics
  5. Greenberg dysplasia 
    ... symptoms of the condition. Chondrodystrophy, hydropic and prenatally lethal type Greenberg skeletal dysplasia HEM dysplasia HEM skeletal dysplasia Hydrops - ectopic calcification - ...
    https://medlineplus.gov/genetics/condition/greenberg-dysplasia - Genetics
  6. Metatropic dysplasia 
    ... Zankl A, Lamande SR, Savarirayan R. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular ... Cohn DH. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet A. 2010 May;152A( ...
    https://medlineplus.gov/genetics/condition/metatropic-dysplasia - Genetics
  7. Terminal osseous dysplasia 
    Terminal osseous dysplasia is a disorder primarily involving skeletal abnormalities and certain skin changes. It is a member of a group of related conditions called otopalatodigital spectrum ...
    https://medlineplus.gov/.../condition/terminal-osseous-dysplasia - Genetics